Henry was one of 100,000 kids diagnosed each year with tyrosinemia type I, a deficiency of an enzyme that, if untreated, causes liver failure and death. As one of the largest designated newborn screening centers in California, CHOC was able to save Henry, whose medication and diet will prevent the serious and life-threatening complications of the disease.

“He was losing some weight but no huge alarms went off,” Nicole Louderback, Henry’s mother, says of his condition shortly after he was born on Sept. 20, 2010. Newborn screening tests detected the disorder before he was a week old, allowing the metabolics team to start life-saving treatment before Henry’s liver went into failure.

Henry’s now a happy, normally developing child — thanks to what Nicole calls the “incredible” work of Dr. Raymond Wang, a CHOC metabolic disorders specialist, and other members on the metabolics team.

A toddler with a devastating rare condition has a chance for health, thanks to an experimental treatment and the tenacity of a CHOC Children’s physician.
Galya Chan, 2, is showing marked improvement ...

Parents often struggle with navigating how to raise a child with rare or genetic diseases. CHOC Children’s provides multiple channels of support including family-centered care, which empowers parents to become ...

Stephen and Cynthia Fry of Newport Coast are longtime philanthropists in Orange County who were introduced to CHOC Children’s three years ago when their younggranddaughter was diagnosed with a rare ...